Aspartate glutamate carrier (citrin) deficiency

Abstract

The mitochondrial inner membrane harbors a set of carrier proteins for metabolite transport that constitute a superfamily of related proteins (Krämer and Palmieri 1992; Walker 1992; Palmieri 1994; Palmieri and van Ommen 1999). Many metabolite transporters or carriers with the feature s of the mitochondrial carrier family are now classified as solute carrier family 25 (SLC25). The members of SLC25 are each composed of approximately 300 amino acid s comprising three homologous domains repeated in tandem, each about 100 amino acids long, that contain a conserved sequence motif, each with two hydrophobic α-helical segments connected by an extensive hydrophilic sequence and two putative mitochondrial transmembrane (TM) spanners (Krämer and Palmieri 1992; Walker 1992; Palmieri 1994). A topological model predicts six TM spanners with amino and carboxyl termini on the cytosolic side and hydrophilic loops on the matrix side.

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